Gene Summary

Name:
chemokine (C-X-C motif) ligand 12
Synonyms:
TPAR1,  PBSF/SDF-1,  SDF-1,  TLSF-b,  Scyb12,  TLSF-a,  Sdf1a,  Sdf1b,  Sdf1,  PBSF

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
enlarged uterus Cxcl12tm1.1(KOMP)Vlcg HET Early adult 0.00
increased mean platelet volume Cxcl12tm1.1(KOMP)Vlcg HET Early adult 9.35×10-05
hydrometra Cxcl12tm1.1(KOMP)Vlcg HET Early adult 0.00
abnormal uterus morphology Cxcl12tm1.1(KOMP)Vlcg HET Early adult 0.00
thrombocytopenia Cxcl12tm1.1(KOMP)Vlcg HET Early adult 1.04×10-05
preweaning lethality, complete penetrance Cxcl12tm1.1(KOMP)Vlcg HOM   Early adult 0.00

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
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Viewing: all phenotypes

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Adrenal gland  Section images heterozygote 100% (2 of 2)
Aorta  Section images heterozygote 50% (1 of 2)
Bone marrow  Section images heterozygote 100% (2 of 2)
Brown adipose tissue  Section images heterozygote 100% (2 of 2)
Cecum  Section images heterozygote 100% (2 of 2)
Cerebellum  Section images heterozygote 100% (2 of 2)
Colon  Section images heterozygote 100% (2 of 2)
Diaphragm  Section images heterozygote 100% (2 of 2)
Duodenum  Section images heterozygote 100% (2 of 2)
Epididymis  Section images heterozygote 50% (1 of 2)
Esophagus  Section images heterozygote 100% (2 of 2)
Eye  Section images heterozygote 100% (2 of 2)
Gonadal fat pad  Section images heterozygote 100% (2 of 2)
Harderian gland  Section images heterozygote 100% (2 of 2)
Ileum  Section images heterozygote 100% (2 of 2)
Jejunum  Section images heterozygote 100% (2 of 2)
Kidney  Section images heterozygote 100% (2 of 2)
Liver  Section images heterozygote 100% (2 of 2)
Lung  Section images heterozygote 100% (2 of 2)
Mammary gland  Section images heterozygote 50% (1 of 2)
Mesenteric adipose tissue  Section images heterozygote 100% (2 of 2)
Mesenteric lymph node  Section images heterozygote 100% (2 of 2)
Midbrain  Section images heterozygote 100% (2 of 2)
Olfactory lobe  Section images heterozygote 100% (2 of 2)
Oviduct  Section images heterozygote 50% (1 of 2)
Pancreas  Section images heterozygote 100% (2 of 2)
Parotid gland  Section images heterozygote 100% (2 of 2)
Penis  Section images heterozygote 50% (1 of 2)
Prostate gland  Section images heterozygote 50% (1 of 2)
Quadriceps  Section images heterozygote 100% (2 of 2)
Sciatic nerve  Section images heterozygote 50% (1 of 2)
Skin  Section images heterozygote 100% (2 of 2)
Spinal cord  Section images heterozygote 100% (2 of 2)
Spleen  Section images heterozygote 100% (2 of 2)
Stomach  Section images heterozygote 100% (2 of 2)
Sublingual gland  Section images heterozygote 100% (2 of 2)
Submandibular gland  Section images heterozygote 100% (2 of 2)
Testis  Section images heterozygote 50% (1 of 2)
Thymus  Section images heterozygote 100% (2 of 2)
Thyroid gland  Section images heterozygote 100% (2 of 2)
Tongue  Section images heterozygote 100% (2 of 2)
Trachea  Section images heterozygote 50% (1 of 2)
Trigeminal V nerve  Section images heterozygote 100% (2 of 2)
Urinary bladder  Section images heterozygote 100% (2 of 2)
Uterus  Section images heterozygote 50% (1 of 2)
Vagina  Section images heterozygote 50% (1 of 2)
Vas deferens  Section images heterozygote 50% (1 of 2)
Vesicular gland  Section images heterozygote 50% (1 of 2)
Blood N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote Not available
Brainstem N/A heterozygote Not available
Cartilage tissue N/A heterozygote Not available
Cerebral cortex N/A heterozygote Not available
Chest bone N/A heterozygote Not available
Gall bladder N/A heterozygote Not available
Heart N/A heterozygote Not available
Hindlimb N/A heterozygote Not available
Hippocampus N/A heterozygote Not available
Hypothalamus N/A heterozygote Not available
Large intestine N/A heterozygote Not available
Lower urinary tract N/A heterozygote Not available
Lymph node N/A heterozygote Not available
Ovary N/A heterozygote Not available
Parathyroid gland N/A heterozygote Not available
Peripheral nervous system N/A heterozygote Not available
Peyer's patch N/A heterozygote Not available
Pituitary gland N/A heterozygote Not available
Skeletal muscle N/A heterozygote Not available
Small intestine N/A heterozygote Not available
Stomach pyloric region N/A heterozygote Not available
Striatum N/A heterozygote Not available
Vascular system N/A heterozygote Not available
White adipose tissue N/A heterozygote Not available

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Heart atrium N/A heterozygote 100% (4 of 4)
Axial skeleton N/A heterozygote 100% (4 of 4)
Brain N/A heterozygote 100% (4 of 4)
Central nervous system ganglion N/A heterozygote 100% (4 of 4)
Dorsal root ganglion N/A heterozygote 100% (4 of 4)
Ear N/A heterozygote 100% (4 of 4)
Embryo N/A heterozygote 100% (4 of 4)
Eye N/A heterozygote 100% (4 of 4)
Footplate N/A heterozygote 0.0% (0 of 4)
Forebrain N/A heterozygote 100% (4 of 4)
Forelimb N/A heterozygote 100% (4 of 4)
Fronto-nasal process N/A heterozygote 100% (4 of 4)
Gut N/A heterozygote 100% (4 of 4)
Handplate N/A heterozygote 0.0% (0 of 4)
Head mesenchyme N/A heterozygote 100% (4 of 4)
Head N/A heterozygote 100% (4 of 4)
Heart ventricle N/A heterozygote 100% (4 of 4)
Heart N/A heterozygote 100% (4 of 4)
Hindbrain N/A heterozygote 25% (1 of 4)
Hindlimb N/A heterozygote 100% (4 of 4)
Liver N/A heterozygote 100% (4 of 4)
Lung N/A heterozygote 100% (4 of 4)
Mandibular process N/A heterozygote 100% (4 of 4)
Maxillary process N/A heterozygote 100% (4 of 4)
Meckel's cartilage N/A heterozygote Ambiguous
Midbrain N/A heterozygote 100% (4 of 4)
Nasal septum N/A heterozygote 0.0% (0 of 4)
Nose N/A heterozygote 100% (4 of 4)
Oral cavity N/A heterozygote 100% (4 of 4)
Outflow tract N/A heterozygote 100% (4 of 4)
N/A heterozygote 100% (3 of 3)
Rib pre-cartilage condensation N/A heterozygote 100% (4 of 4)
Skeleton N/A heterozygote 100% (3 of 3)
Skin N/A heterozygote 100% (4 of 4)
Spinal cord N/A heterozygote 100% (4 of 4)
Tail somite N/A heterozygote 100% (4 of 4)
Tail N/A heterozygote 100% (4 of 4)
Thoracic vertebral cartilage condensation N/A heterozygote 100% (4 of 4)
Tongue N/A heterozygote 100% (1 of 1)
Trunk mesenchyme N/A heterozygote 75% (3 of 4)
Umbilical artery embryonic part N/A heterozygote 100% (1 of 1)
Umbilical vein embryonic part N/A heterozygote 100% (1 of 1)
Vibrissa N/A heterozygote 0.0% (0 of 4)

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.68% (4 of 585)
aorta 0.17% (1 of 585)
blood 0.0%
bone marrow 0.0%
brain 0.68% (4 of 585)
brainstem 0.34% (2 of 585)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 585)
cecum 3.23% (12 of 371)
cerebellum 0.51% (3 of 585)
cerebral cortex 0.34% (2 of 585)
chest bone Unavailable
colon 9.45% (12 of 127)
diaphragm 0.0%
duodenum 1.57% (2 of 127)
epididymis 13.43% (18 of 134)
esophagus 1.71% (7 of 409)
eye 0.0%
gall bladder 0.0%
gonadal fat pad 0.0%
harderian gland 0.0%
heart 0.34% (2 of 585)
hindlimb 0.0%
hippocampus 0.51% (3 of 585)
hypothalamus 0.34% (2 of 585)
ileum 11.02% (14 of 127)
jejunum 4.72% (6 of 127)
kidney 3.59% (21 of 585)
large intestine 1.71% (10 of 585)
liver 0.0%
lower urinary tract 0.17% (1 of 585)
lung 0.34% (2 of 585)
lymph node 0.17% (1 of 585)
mammary gland 0.0%
mesenteric adipose tissue 0.0%
mesenteric lymph node 0.0%
midbrain 0.0%
olfactory lobe 0.34% (2 of 585)
ovary 0.17% (1 of 585)
oviduct 0.0%
pancreas 0.85% (5 of 585)
parathyroid gland 0.18% (1 of 563)
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.34% (2 of 585)
peyers patch 0.0%
pituitary gland 0.17% (1 of 585)
prostate gland 2.05% (12 of 585)
quadriceps 0.0%
sciatic nerve 0.0%
skeletal muscle 0.0%
skin 0.17% (1 of 585)
small intestine 1.54% (9 of 585)
spinal cord 0.51% (3 of 585)
spleen 0.51% (3 of 585)
stomach 2.22% (13 of 585)
stomach pyloric region 0.0%
striatum 0.51% (3 of 585)
sublingual gland 0.0%
submandibular gland 1.52% (2 of 132)
testis 1.03% (6 of 585)
thymus 0.17% (1 of 585)
thyroid gland 2.91% (17 of 585)
tongue 3.94% (5 of 127)
trachea 0.51% (3 of 585)
trigeminal v nerve 0.0%
urinary bladder 0.0%
uterus 0.0%
vagina 0.0%
vas deferens 3.93% (15 of 382)
vascular system 0.0%
vesicular gland 0.0%
white adipose tissue 0.0%

Background staining occurs in wild type mice and embryos at an incidental rate.

Background staining occurs in wild type embryos at a measurable rate.

Anatomy Background staining in controls(WT)
atrium 1.67% (1 of 60)
axial skeleton 1.56% (1 of 64)
brain 1.18% (6 of 508)
central nervous system ganglion 1.37% (1 of 73)
dorsal root ganglion 1.67% (1 of 60)
ear 0.2% (1 of 508)
embryo 0.2% (1 of 509)
eye 0.2% (1 of 508)
footplate 0.2% (1 of 508)
forebrain 0.2% (1 of 508)
forelimb 0.2% (1 of 508)
fronto-nasal process 1.64% (1 of 61)
gut 1.69% (1 of 59)
handplate 0.2% (1 of 508)
head 0.98% (5 of 508)
head mesenchyme 1.67% (1 of 60)
heart 0.2% (1 of 508)
heart ventricle 1.67% (1 of 60)
hindbrain 1.18% (6 of 508)
hindlimb 0.2% (1 of 508)
liver 0.2% (1 of 503)
lung 0.2% (1 of 503)
mandibular process 0.2% (1 of 508)
maxillary process 0.2% (1 of 508)
meckel's cartilage 0.0%
midbrain 0.2% (1 of 508)
nasal septum 1.67% (1 of 60)
nose 1.28% (1 of 78)
oral cavity 0.2% (1 of 503)
outflow tract 1.67% (1 of 60)
pericardium 1.82% (1 of 55)
rib pre-cartilage condensation 1.75% (1 of 57)
skeleton 1.28% (1 of 78)
skin 0.2% (1 of 508)
spinal cord 1.39% (1 of 72)
tail 0.2% (1 of 508)
tail somite group 0.2% (1 of 508)
thoracic vertebral cartilage condensation 1.82% (1 of 55)
tongue 1.82% (1 of 55)
trunk mesenchyme 1.67% (1 of 60)
umbilical artery embryonic part 1.67% (1 of 60)
umbilical vein embryonic part 1.67% (1 of 60)
vibrissa 1.35% (1 of 74)

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Adult LacZ

LacZ Images Section

167 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Human diseases caused by Cxcl12 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Cxcl12 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Uterine Anomalies
Abnormality of the uterus, Bicornuate uterus OMIM:192000
Bleeding Disorder, Platelet-Type, 15
Thrombocytopenia, Increased mean platelet volume, Platelet anisocytosis OMIM:615193
Bleeding Disorder, Platelet-Type, 16
Anemia, Giant platelets, Thrombocytopenia, Macrothrombocytopenia, Platelet anisocytosis, Impaired... OMIM:187800
Hydatidiform Mole
Anemia, Enlarged uterus ORPHA:99927
Bleeding Disorder, Platelet-Type, 24
Impaired epinephrine-induced platelet aggregation, Increased mean platelet volume, Impaired arach... OMIM:619271
Platelet Glycoprotein Iv Deficiency
Thrombocytopenia, Giant platelets OMIM:608404
Beemer Lethal Malformation Syndrome
Thrombocytopenia, Ambiguous genitalia OMIM:209970
Macrothrombocytopenia, Autosomal Dominant, Tubb1-Related
Macrothrombocytopenia OMIM:613112
Macrothrombocytopenia and progressive sensorineural deafness
Thrombocytopenia, Macrothrombocytopenia, Giant platelets OMIM:600208
Thrombocytopenia 4
Thrombocytopenia OMIM:612004
Sebastian syndrome
Thrombocytopenia, Neutrophil inclusion bodies, Giant platelets, Leukocyte inclusion bodies OMIM:605249
Giant platelet syndrome with thrombocytopenia
Thrombocytopenia, Giant platelets OMIM:137560
Endometriosis, Susceptibility To, 1
Endometriosis OMIM:131200
Thrombocytopenic Purpura, Autoimmune
Thrombocytopenia OMIM:188030
Thrombocytopenia 2
Leukocytosis, Thrombocytopenia OMIM:188000
Bleeding Disorder, Platelet-Type, 9
Thrombocytopenia OMIM:614200
Thrombocytopenia, Cyclic
Thrombocytopenia, Neutropenia, Cyclic neutropenia OMIM:188020
Thrombocytopenia 7
Reduced platelet dense granules, Impaired ristocetin-induced platelet aggregation, Impaired colla... OMIM:619130
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Thrombocytopenia, Neutrophil inclusion bodies, Giant platelets, Leukocyte inclusion bodies OMIM:155100
Premature Ovarian Failure 3
Premature ovarian insufficiency, Hypoplasia of the uterus OMIM:608996
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Thrombocytopenia OMIM:124900
Ovarian Dysgenesis 7
Hypoplasia of the uterus OMIM:618117
Ovarian Dysgenesis 6
Hypoplasia of the uterus OMIM:618078
Amegakaryocytic Thrombocytopenia, Congenital
Pancytopenia, Thrombocytopenia, Amegakaryocytic thrombocytopenia OMIM:604498
Ovarian Dysgenesis 2
Abnormality of the uterus, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Gonad... OMIM:300510
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Hypochromic anemia, Anisocytosis, Poikilocytosis, Cryptorchidism, Macrothrombocytopenia, Anemia o... ORPHA:67044
Uterus Bicornis Bicollis With Partial Vaginal Septum And Unilateral Hematocolpos With Ipsilateral Renal Agenesis
Partial vaginal septum, Uterus didelphys, Hematocolpos OMIM:192050
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal platelet function, Anemia, Abnormal hemoglobin, Splenomegaly, Thrombocytopenia ORPHA:231393
Spermatogenic Failure, Y-Linked, 1
Male infertility, Reduced sperm motility OMIM:400042
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Hypogonadotropic hypogonadism, Hypoplasia of the uterus OMIM:614842
Myh9-Related Disease
Neutrophil inclusion bodies, Increased mean platelet volume, Giant platelets, Congenital thromboc... ORPHA:182050
Slc35A1-Cdg
Thrombocytopenia, Abnormal platelet granules, Giant platelets, Neutropenia ORPHA:238459
Pancytopenia And Occlusive Vascular Disease
Pancytopenia, Thrombocytopenia, Anemia, Leukopenia OMIM:167850
Bernard-Soulier Syndrome
Thrombocytopenia, Giant platelets, Impaired ristocetin-induced platelet aggregation OMIM:231200
Ovarian Dysgenesis 5
Hypoplasia of the uterus OMIM:617690
Fechtner syndrome
Thrombocytopenia, Neutrophil inclusion bodies, Giant platelets, Leukocyte inclusion bodies OMIM:153640
Caudal Duplication Anomaly
Uterus didelphys OMIM:607864
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Amegakaryocytic thrombocytopenia ORPHA:71289
46,Xy Sex Reversal 3
Sex reversal, Penoscrotal hypospadias, Exaggerated rugosity of the labia majora, Clitoral hypertr... OMIM:612965
X-Linked Lymphoproliferative Disease
Myocarditis, Decreased circulating antibody level, Splenomegaly, Absent natural killer cells, Dys... ORPHA:2442
Omphalocele-Cleft Palate Syndrome, Lethal
Bicornuate uterus OMIM:258320
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Thrombocytopenia OMIM:166990
Eosinophilia, Familial
Leukocytosis, Eosinophilia, Anemia, Thrombocytopenia OMIM:131400
Hemochromatosis, Neonatal
Hepatocellular necrosis, Hepatic fibrosis, Cirrhosis, Abnormal bleeding, Cholestasis, Hepatic fai... OMIM:231100
Sea-Blue Histiocyte Disease
Thrombocytopenia, Sea-blue histiocytosis, Splenomegaly OMIM:269600
Amed Syndrome, Digenic
Leukopenia, Anemia, Acute myeloid leukemia, Thrombocytopenia, Hypoplasia of the uterus OMIM:619151
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hepatomegaly, Hepatocellular necrosis, Depletion of mitochondrial DNA in liver, Micronodular cirr... OMIM:251880
Erythroleukemia, Familial, Susceptibility To
Erythroid hyperplasia, Leukemia, Anemia, Splenomegaly, Acute myeloid leukemia, Thrombocytopenia OMIM:133180
Hypomelia With Mullerian Duct Anomalies
Longitudinal vaginal septum, Uterus didelphys OMIM:146160
Long Qt Syndrome 16
Patent ductus arteriosus after birth at term, Perimembranous ventricular septal defect OMIM:618782
Platelet Signal Processing Defect
Thrombocytopenia, Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced platele... OMIM:173590
Premature Ovarian Failure 7
Clitoral hypertrophy, Gonadal dysgenesis, Premature ovarian insufficiency, Hypoplasia of the uterus OMIM:612964
Pseudo-Von Willebrand Disease
Intermittent thrombocytopenia OMIM:177820
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Neutropenia, Leukopenia, Anemia, Splenomegaly, Extramedullary hematopoiesis, Thrombocytopenia OMIM:615285
Anemia, Sideroblastic, 5
Reduced hematocrit, Neutropenia, Hypochromic microcytic anemia, Anemia, Thrombocytopenia OMIM:619523
Testicular Regression Syndrome
Abnormal morphology of female internal genitalia, Absent testis, Agonadism, Abnormality of male i... ORPHA:983
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Thrombocytopenia, Increased mean platelet volume OMIM:300048
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Anemia, Abnormal hemoglobin ORPHA:3319
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia OMIM:252270
Dk Phocomelia Syndrome
Thrombocytopenia OMIM:223340
Perrault Syndrome 6
Hypoplasia of the uterus, Streak ovary, Premature ovarian insufficiency OMIM:617565
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Azoospermia, Hypogonadotropic hypogonadism, Micropenis, Cryptorchidism, Decreased testicular size... OMIM:614837
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Macrocytic anemia, Neutropenia, Abnormal reticulocyte morphology, Abnormal platelet morphology, A... OMIM:300835
Thrombocytopenia 3
Decreased mean platelet volume, Thrombocytopenia OMIM:273900
Bleeding Disorder, Platelet-Type, 19
Macrothrombocytopenia, Anemia OMIM:616176
46,Xx Ovotesticular Disorder Of Sex Development
Hypospadias, True hermaphroditism, Bifid scrotum, Abnormal morphology of female internal genitali... ORPHA:2138
Mayer-Rokitansky-Kuster-Hauser Syndrome
Aplasia of the vagina, Hypoplasia of the uterus OMIM:277000
Diffuse Neonatal Hemangiomatosis
Thrombocytopenia, Abnormal vagina morphology, Anemia ORPHA:2123
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Stomatocytosis, Hemolytic anemia, Increased mean platelet volume, Splenomegaly OMIM:153670
Pelger-Huet Anomaly
Neutropenia, Hyposegmentation of neutrophil nuclei, Giant platelets, Thrombocytopenia, Abnormalit... OMIM:169400
Roch-Leri Mesosomatous Lipomatosis
Thrombocytopenia ORPHA:529
Double Uterus-Hemivagina-Renal Agenesis Syndrome
Hydrocolpos, Abnormality of the uterine cervix, Partial vaginal septum, Uterus didelphys ORPHA:3411
Phosphoglycerate Dehydrogenase Deficiency
Thrombocytopenia, Megaloblastic anemia, Decreased testicular size OMIM:601815
Preeclampsia/Eclampsia 1
Thrombocytopenia OMIM:189800
Diethylstilbestrol Syndrome
Hypospadias, Testicular dysgenesis, Abnormal reproductive system morphology, Abnormality of the u... ORPHA:1916
46,Xy Sex Reversal 7
Gonadal dysgenesis, male, Sex reversal, Streak ovary, Gonadoblastoma, Hypoplasia of the fallopian... OMIM:233420
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Neutropenia, Anemia, Congenital thrombocytopenia, Thrombocytopenia, Hydrocele testis OMIM:616738
Sitosterolemia 1
Stomatocytosis, Episodic hemolytic anemia, Splenomegaly, Giant platelets, Chronic hemolytic anemi... OMIM:210250
Bone Marrow Failure Syndrome 2
Thrombocytopenia, Anemia, Leukopenia OMIM:615715
Perrault Syndrome 3
Hypoplasia of the uterus, Hypergonadotropic hypogonadism OMIM:614129
Congenital Disorder Of Glycosylation, Type Ix
Thrombocytopenia, Micropenis, Cryptorchidism OMIM:615597
Rudiger Syndrome
Bicornuate uterus, Micropenis, Ovarian cyst OMIM:268650
Vaginal Atresia
Imperforate hymen, Vaginal hematocele, Uterus didelphys, Abnormality of the uterus, Vaginal atres... ORPHA:65681
Acute Myelomonocytic Leukemia
Leukocytosis, Eosinophilia, Anemia, Thrombocytopenia ORPHA:517
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Neutropenia, Increased mean corpuscular volume, Anemia, Acute myeloid leukemia, Pancytopenia, Thr... OMIM:619041
Androgen Insensitivity Syndrome
Aplasia/Hypoplasia of the fallopian tube, Aplasia/hypoplasia of the uterus, Abnormal morphology o... ORPHA:754
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Bicornuate uterus, Aplasia/hypoplasia of the uterus, Azoospermia ORPHA:2578
46,Xy Sex Reversal 11
Gonadal dysgenesis with female appearance, male, Vanishing testis, Aplasia of the uterus, Abnorma... OMIM:273250
Gray Platelet Syndrome
Thrombocytopenia, Abnormality of thrombocytes, Splenomegaly ORPHA:721
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Decreased mean platelet volume, Thrombocytopenia, Lymphocytosis OMIM:617718
Refractory Anemia
Macrocytic anemia, Normocytic anemia, Neutropenia, Normochromic anemia, Erythroid hypoplasia, Thr... ORPHA:98826
Wt Limb-Blood Syndrome
Hypoplastic anemia, Leukemia, Pancytopenia, Thrombocytopenia, Cryptorchidism OMIM:194350
Autoinflammatory Syndrome, Familial, Behcet-Like
Thrombocytopenia, Genital ulcers, Hemolytic anemia, Lymphopenia OMIM:616744
Fanconi Anemia, Complementation Group G
Leukemia, Thrombocytopenia, Neutropenia, Anemia OMIM:614082
Bilateral Striopallidodentate Calcinosis
Thrombocytopenia ORPHA:1980
African Iron Overload
Hepatomegaly, Hepatic fibrosis, Elevated hepatic iron concentration, Hepatocellular carcinoma, Pe... ORPHA:139507
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Testicular dysgenesis, Gonadal dysgenesis with female appearance, male, Abnormal vagina morpholog... ORPHA:168563
Fanconi Anemia, Complementation Group T
Pancytopenia, Thrombocytopenia, Anemia OMIM:616435
Premature Ovarian Failure 18
Hypoplasia of the ovary, Premature ovarian insufficiency, Hypoplasia of the uterus OMIM:619203
Premature Ovarian Failure 6
Hypoplasia of the uterus, Streak ovary, Premature ovarian insufficiency OMIM:612310
Storage Pool Platelet Disease
Decreased mean platelet volume, Acute leukemia OMIM:185050
Dyskeratosis Congenita, Autosomal Recessive 2
Pancytopenia, Thrombocytopenia, Testicular atrophy OMIM:613987
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Fulminant hepatic failure, Decreased 3-hydro... OMIM:231530
Bleeding Disorder, Platelet-Type, 20
Thrombocytopenia OMIM:616913
Von Willebrand Disease, Type 2
Thrombocytopenia OMIM:613554
Cernunnos-Xlf Deficiency
B lymphocytopenia, Anemia, Lymphopenia, Thrombocytopenia, T lymphocytopenia ORPHA:169079
Wiskott-Aldrich Syndrome 2
Thrombocytopenia, Decreased proportion of CD8-positive T cells OMIM:614493
Testicular Agenesis
Vanishing testis, Urethrovaginal fistula, Abnormal vas deferens morphology, Absent testis, Urogen... ORPHA:325124
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hepatomegaly, Hepatocellular necrosis, Anisocytosis, Poikilocytosis, Chronic hemolytic anemia, Re... OMIM:618278
Aorta Coarctation
Bicuspid aortic valve, Coarctation of the descending aortic arch, Perimembranous ventricular sept... ORPHA:1457
Alpha-Thalassemia-Myelodysplastic Syndrome
Neutropenia, Acute leukemia, Splenomegaly, Microcytic anemia, Thrombocytopenia, HbH hemoglobin ORPHA:231401
Microphthalmia, Syndromic 12
Bicornuate uterus, Cryptorchidism OMIM:615524
Ovarian Dysgenesis 9
Hypoplasia of the ovary, Premature ovarian insufficiency, Hypoplasia of the uterus OMIM:619665
Carcinoid Syndrome
Right ventricular failure, Facial telangiectasia, Palpitations, Hepatic necrosis, Tricuspid regur... ORPHA:100093
Fetal Parvovirus Syndrome
Thrombocytopenia, Anemia ORPHA:295
Ventricular Septal Defect 2
Perimembranous ventricular septal defect OMIM:614431
Acquired Idiopathic Sideroblastic Anemia
Leukocytosis, Thrombocytosis, Neutropenia, Normocytic anemia, Megaloblastic erythroid hyperplasia... ORPHA:75564
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities
Cerebellar dysplasia, Arthrogryposis multiplex congenita, Cerebellar hypoplasia OMIM:616531
Transaldolase Deficiency
Thrombocytopenia, Hepatosplenomegaly, Anemia, Abnormality of the clitoris ORPHA:101028
Cardiac Septal Defects With Coarctation Of The Aorta
Secundum atrial septal defect, Coarctation of aorta, Perimembranous ventricular septal defect OMIM:212090
Atypical Hemolytic Uremic Syndrome
Thrombocytopenia, Microangiopathic hemolytic anemia ORPHA:2134
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Hypogonadotropic hypogonadism, Hypoplasia of the ovary, Micropenis, Cryptorchidism, Decreased tes... OMIM:614841
46,Xx Sex Reversal 2
True hermaphroditism, Sex reversal, Bifid scrotum, Azoospermia, Hypoplasia of the vagina, Micrope... OMIM:278850
Mitochondrial Complex I Deficiency, Nuclear Type 36
Cardiomegaly, Perimembranous ventricular septal defect, Limb hypertonia OMIM:619170
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Mental Retardation Syndrome
Hypospadias, Abnormal vagina morphology, Streak ovary, Gonadoblastoma, Abnormality of the uterus,... OMIM:194072
Polycythemia Vera
Thrombocytosis, Leukocytosis, Increased red blood cell mass, Splenomegaly, Increased hematocrit, ... OMIM:263300
Whim Syndrome 1
Neutropenia, Abnormal morphology of female internal genitalia, Abnormality of female external gen... OMIM:193670
Forsythe-Wakeling Syndrome
Thrombocytopenia OMIM:613606
Takenouchi-Kosaki Syndrome
Hypospadias, Thrombocytopenia, Cryptorchidism, Increased mean platelet volume OMIM:616737
Hepatocellular Carcinoma
Thrombocytosis, Hepatomegaly, Hemobilia, Budd-Chiari syndrome, Polycythemia, Hepatic necrosis, An... ORPHA:88673
Renal Hypodysplasia/Aplasia 3
Abnormality of the uterus OMIM:617805
Pediatric Hepatocellular Carcinoma
Hepatomegaly, Hepatic necrosis, Hepatic fibrosis ORPHA:33402
Thrombocytopenia, Anemia, And Myelofibrosis
Thrombocytopenia, Anisopoikilocytosis, Anemia, Splenomegaly OMIM:617441
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Abnormal heart morphology, Perimembranous ventricular septal defect, Patent ductus arteriosus, At... ORPHA:363444
Leydig Cell Hypoplasia
Hypospadias, Hyoplasia of the Leydig cells, Aplasia of the uterus, Abnormal internal genitalia, A... ORPHA:755
Estrogen Resistance
Hypoplasia of the uterus OMIM:615363
Thrombocytopenia 5
Anemia, Thrombocytopenia, Neutropenia OMIM:616216
Ataxia-Pancytopenia Syndrome
Hypoplastic anemia, Neutropenia, Acute myelomonocytic leukemia, Anemia, Pancytopenia, Thrombocyto... OMIM:159550
Chronic Myeloid Leukemia
Thrombocytosis, Abnormal basophil morphology, Leukocytosis, Abnormal granulocyte morphology, Sple... ORPHA:521
Mullerian Aplasia And Hyperandrogenism
Aplasia of the uterus, Aplasia of the vagina, Aplasia/Hypoplasia of the fallopian tube OMIM:158330
Nephrotic Syndrome, Type 7
Thrombocytopenia, Hemolytic anemia OMIM:615008
Moyamoya Disease With Early-Onset Achalasia
Thrombocytopenia, Abnormal platelet aggregation ORPHA:401945
Hemangioma-Thrombocytopenia Syndrome
Thrombocytopenia, Microangiopathic hemolytic anemia OMIM:141000
Bernard-Soulier Syndrome
Decreased platelet glycoprotein Ib-IX-V, Macrothrombocytopenia, Giant platelets, Impaired ristoce... ORPHA:274
Thrombocytopenia 1
Decreased mean platelet volume, Congenital thrombocytopenia, Intermittent thrombocytopenia OMIM:313900
Stt3B-Cdg
Thrombocytopenia, Small scrotum, Micropenis, Cryptorchidism ORPHA:370924
Aicardi-Goutieres Syndrome 3
Thrombocytopenia, Hepatosplenomegaly OMIM:610329
Malaria
Thrombocytopenia, Anemia ORPHA:673
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Thrombocytopenia OMIM:314000
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Bicornuate uterus, Hypoplasia of the uterus, Azoospermia OMIM:601076
Preeclampsia
Thrombocytopenia, Polycystic ovaries ORPHA:275555
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hypertrophic cardiomyopathy, Hepatomegaly, Hepatocellular necrosis, Reduced ejection fraction, He... OMIM:201475
Neutropenia, Lethal Congenital, With Eosinophilia
Eosinophilia, Neutropenia, Neonatal death OMIM:257100
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Prolonged QT interval, Decreased 3-hydroxyac... ORPHA:71212
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Transposition of the great arteries, Spina bifida occulta, Perimembranous ventricular septal defe... OMIM:617877
Lig4 Syndrome
Pancytopenia, Thrombocytopenia, Micropenis, Cryptorchidism OMIM:606593
Transcobalamin Deficiency
Pancytopenia, Thrombocytopenia, Neutropenia, Lymphopenia ORPHA:859
Beta-Thalassemia
Hypogonadotropic hypogonadism, Anemia, Abnormal hemoglobin, Splenomegaly, Microcytic anemia, Thro... ORPHA:848
Leigh Syndrome
Hepatocellular necrosis OMIM:256000
Sandestig-Stefanova Syndrome
Perimembranous ventricular septal defect, Muscular ventricular septal defect, Camptodactyly OMIM:618804
Hemophagocytic Lymphohistiocytosis, Familial, 4
Neutropenia, Anemia, Splenomegaly, Thrombocytopenia, Hemophagocytosis OMIM:603552
Acute Liver Failure
Shock, Intracranial hemorrhage, Hepatocellular necrosis, Prolonged prothrombin time, Hepatitis, H... ORPHA:90062
Müllerian Duct Anomalies-Limb Anomalies Syndrome
Hypoplasia of penis, Uterus didelphys ORPHA:2491
Hereditary Breast And Ovarian Cancer Syndrome
Ovarian neoplasm, Abnormal fallopian tube morphology, Prostate cancer ORPHA:145
Chudley-Mccullough Syndrome
Cerebellar dysplasia, Hydrocephalus, Cerebellar hypoplasia OMIM:604213
46,Xx Sex Reversal 1
Hypospadias, True hermaphroditism, Sex reversal, Azoospermia, Clitoral hypertrophy, Bicornuate ut... OMIM:400045
Immunodeficiency 76
B lymphocytopenia, Splenomegaly, Lymphopenia, Death in childhood, T lymphocytopenia OMIM:619164
Platelet Disorder, Familial, With Associated Myeloid Malignancy
Abnormal dense granule content, Acute myeloid leukemia, Abnormal alpha granule content, Acute mon... OMIM:601399
Thrombocytopenia With Beta-Thalassemia, X-Linked
Reticulocytosis, Thrombocytopenia, Hemolytic anemia, Splenomegaly OMIM:314050
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Thrombocytopenia, Hypersplenism, Anemia, Splenomegaly OMIM:610539
Pontocerebellar Hypoplasia, Type 15
Chronic neutropenia, Thrombocytopenia, Anemia OMIM:619302
Ovarian Fibrothecoma
Abnormality of the endometrium, Abnormality of the ovary, Gonadal calcification, Ovarian fibroma ORPHA:314478
Beemer-Ertbruggen Syndrome
Thrombocytopenia, Cryptorchidism, Ambiguous genitalia ORPHA:1237
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Neonatal death, Coarctation of aorta, Abnormal cardiac septum morphology, Patent ductus arteriosus OMIM:601612
Laubry-Pezzi Syndrome
Bicuspid aortic valve, Ascending tubular aorta aneurysm, Ventricular septal defect, Dilatation of... ORPHA:99094
Lathosterolosis
Increased mean platelet volume, Anisopoikilocytosis, Schistocytosis, Acanthocytosis, Ambiguous ge... OMIM:607330
Complete Androgen Insensitivity Syndrome
Aplasia of the uterus, Aplasia/Hypoplasia of the fallopian tube, Abnormal morphology of female in... ORPHA:99429
Multiple Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Cardiomyopathy, Decreased liver function, Increased circulating lactate dehydrogena... ORPHA:26791
+173470 integrin, beta-3
Decreased platelet glycoprotein IIb-IIIa, Post-transfusion thrombocytopenia, Impaired platelet ag... OMIM:173470
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Impairment), Type B, 1
Cerebellar dysplasia, Macroglossia, Facial palsy, Cardiomyopathy, Congenital muscular dystrophy, ... OMIM:613155
Caudal Duplication
Cryptorchidism, Abnormal penis morphology, Uterus didelphys ORPHA:1756
Combined Cellular And Humoral Immune Defects With Granulomas
B lymphocytopenia, T lymphocytopenia OMIM:233650
Pontocerebellar Hypoplasia, Type 14
Chronic neutropenia, Thrombocytopenia OMIM:619301
Wolfram Syndrome, Mitochondrial Form
Thrombocytopenia, Megaloblastic anemia, Neutropenia, Sideroblastic anemia OMIM:598500
Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked
Reduced alpha/beta synthesis ratio, Ventricular septal defect, Hypochromic microcytic anemia, Mac... OMIM:301040
Immunodeficiency 84
B lymphocytopenia, Perianal abscess, Splenomegaly OMIM:619437
Perrault Syndrome 4
Bicornuate uterus, Hypoplasia of the ovary, Premature ovarian insufficiency, Hypoplasia of the ut... OMIM:615300
Non-Involuting Congenital Hemangioma
Thrombocytopenia ORPHA:141179
Fanconi Anemia, Complementation Group V
Anemia, Thrombocytopenia, Neutropenia OMIM:617243
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Dandy-Walker malformation, Cerebellar cyst, Cerebellar dysplasia, Hypoplasia of the pons, Left ve... OMIM:613153
Heart Defects, Congenital, And Other Congenital Anomalies
Interrupted aortic arch, Ventricular septal defect, Truncus arteriosus, Congenital diaphragmatic ... OMIM:600001
Immunodeficiency 46
Anemia, Neutropenia, Intermittent thrombocytopenia OMIM:616740
Platelet Disorder, Undefined
Thrombocytopenia, Impaired platelet aggregation OMIM:173420
Hermansky-Pudlak Syndrome 9
Thrombocytopenia, Leukopenia OMIM:614171
Thiamine-Responsive Megaloblastic Anemia Syndrome
Thrombocytopenia, Cryptorchidism, Thiamine-responsive megaloblastic anemia, Sideroblastic anemia OMIM:249270
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Acute lymphoblastic leukemia, Neutropenia, Anemia, Splenomegaly, Acute myeloid leukemia, Hepatosp... ORPHA:158057
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Anemia, Splenomegaly, Hepatosplenomegaly, Thrombocytopenia, Hemophagocytosis OMIM:613101
Halperin-Birk Syndrome
Congenital diaphragmatic hernia, Perimembranous ventricular septal defect, Flexion contracture, D... OMIM:618651
Trichohepatoenteric Syndrome 1
Hypospadias, Thrombocytosis, Increased mean platelet volume OMIM:222470
Partial Androgen Insensitivity Syndrome
Hypospadias, Aplasia of the uterus, Bifid scrotum, Fused labia majora, Azoospermia, Urogenital si... ORPHA:90797
Congenital Gerbode Defect
Constrictive pericarditis, Ventricular septal defect, Bacterial endocarditis, Right ventricular h... ORPHA:99095
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia
Acanthocytosis, Poikilocytosis, Congenital thrombocytopenia, Anemia of inadequate production OMIM:300367
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Thrombocytopenia, Sideroblastic anemia OMIM:617021
Osteopetrosis, Autosomal Recessive 8
Thrombocytopenia, Anemia, Splenomegaly OMIM:615085
Thyrocerebrorenal Syndrome
Thrombocytopenia ORPHA:3327
Renal And Mullerian Duct Hypoplasia
Aplasia of the uterus, Anteriorly displaced urethral meatus, Hydrocele testis OMIM:266810
Immunodeficiency, Common Variable, 12, With Autoimmunity
Thrombocytopenia, Autoimmune hemolytic anemia OMIM:616576
Townes-Brocks Syndrome 2
Hypospadias, Rectovaginal fistula, Bifid uterus OMIM:617466
Sengers Syndrome
Thrombocytopenia OMIM:212350
Mungan Syndrome
Perimembranous ventricular septal defect, Pulmonic stenosis OMIM:611376
Lumbar Syndrome
Hypospadias, Hypoplastic labia majora, Bifid scrotum, Bifid uterus, Micropenis, Ambiguous genital... ORPHA:83628
Satoyoshi Syndrome
Abnormality of the uterus, Abnormality of the ovary, Hypoplasia of the ovary, Hypoplasia of the u... ORPHA:3130
Multiple Acyl-Coa Dehydrogenase Deficiency
Hepatic steatosis, Hepatomegaly, Hepatic periportal necrosis, Jaundice OMIM:231680
Rapidly Involuting Congenital Hemangioma
Thrombocytopenia ORPHA:141184
Congenitally Corrected Transposition Of The Great Arteries
Single ventricle, Double outlet left ventricle, Patent ductus arteriosus, Abnormal left ventricul... ORPHA:216694
Heterotaxy, Visceral, 4, Autosomal
Dextrocardia, Ventricular septal defect, Atrioventricular canal defect, Right aortic arch, Ectopi... OMIM:613751
Bleeding Disorder, Platelet-Type, 21
Thrombocytopenia, Impaired platelet aggregation OMIM:617443
3-Methylglutaconic Aciduria Type 4
Thrombocytopenia ORPHA:67048
Bone Marrow Failure Syndrome 4
Thrombocytopenia, Anemia, Leukopenia OMIM:618116
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Pancytopenia, Thrombocytopenia, Megaloblastic anemia OMIM:613839
Lethal Omphalocele-Cleft Palate Syndrome
Bifid uterus ORPHA:2736
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Cerebellar dysplasia, Muscular dystrophy OMIM:615041
Hymen, Imperforate
Hydrocolpos, Imperforate hymen, Hematocolpos OMIM:237100
Idiopathic Aplastic Anemia
Neutropenia, Anemia, Reticulocytopenia, Pancytopenia, Thrombocytopenia ORPHA:88
Thrombocytopenia, Paris-Trousseau Type
Thrombocytopenia OMIM:188025
Combined Oxidative Phosphorylation Deficiency 14
Thrombocytopenia, Anemia OMIM:614946
Neutropenia, Severe Congenital, 2, Autosomal Dominant
B lymphocytopenia, Neutropenia, Monocytosis OMIM:613107
Osteopetrosis, Autosomal Recessive 4
Anemia, Splenomegaly, Hepatosplenomegaly, Reticulocytosis, Thrombocytopenia OMIM:611490
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Hypospadias, Thrombocytopenia, Increased mean platelet volume ORPHA:487796
Thrombotic Thrombocytopenic Purpura
Reticulocytosis, Thrombocytopenia, Microangiopathic hemolytic anemia ORPHA:54057
Aicardi-Goutieres Syndrome 4
Pancytopenia, Thrombocytopenia, Hepatosplenomegaly, Splenomegaly OMIM:610333
Donnai-Barrow Syndrome
Abnormality of the uterus, Bicornuate uterus ORPHA:2143
Agammaglobulinemia 8, Autosomal Dominant
B lymphocytopenia OMIM:616941
Syndromic Diarrhea
Thrombocytosis, Increased mean platelet volume, Hypoplasia of the thymus, Splenomegaly, Lymphopenia ORPHA:84064
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Abnormally low T cell receptor excision circle level, B lymphocytopenia OMIM:618987
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Anemia, Thrombocytopenia, Cryptorchidism, Neutropenia OMIM:614857
Quebec Platelet Disorder
Thrombocytopenia, Impaired epinephrine-induced platelet aggregation OMIM:601709
Thyrocerebroretinal Syndrome
Thrombocytopenia OMIM:274240
Ghosal Hematodiaphyseal Dysplasia
Refractory anemia, Thrombocytopenia, Leukopenia OMIM:231095
Congenital Disorder Of Glycosylation, Type Iik
Thrombocytopenia OMIM:614727
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Bicuspid aortic valve, Ventricular septal defect, Truncus arteriosus, Atrioventricular canal defe... ORPHA:508498
Seckel Syndrome 7
Hypoplasia of the uterus OMIM:614851
Gaucher Disease, Type Iii
Pancytopenia, Thrombocytopenia, Splenomegaly OMIM:231000
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Thrombocytopenia OMIM:254900
Müllerian Aplasia And Hyperandrogenism
Abnormality of the ovary, Abnormal vagina morphology, Hypoplasia of the uterus ORPHA:247768
Renal Hypodysplasia/Aplasia 1
Vaginal atresia, Bicornuate uterus OMIM:191830
Congenital Disorder Of Glycosylation, Type Ih
Thrombocytopenia, Cryptorchidism, Anemia OMIM:608104
Proteasome-Associated Autoinflammatory Syndrome 2
Thrombocytopenia OMIM:618048
Congenital Disorder Of Glycosylation, Type Iif
Decreased platelet glycoprotein Ib, Thrombocytopenia, Macrothrombocytopenia, Neutropenia OMIM:603585
Isovaleric Acidemia
Pancytopenia, Thrombocytopenia, Leukopenia OMIM:243500
Maternal Uniparental Disomy Of Chromosome 6
Clitoral hypertrophy, Thrombocytopenia, Hydrocele testis ORPHA:96181
Folate Malabsorption, Hereditary
Thrombocytopenia, Neutropenia, Leukopenia, Folate-responsive megaloblastic anemia OMIM:229050
3-Methylglutaconic Aciduria, Type Iv
Cerebellar dysplasia, Biventricular hypertrophy, Subvalvular aortic stenosis OMIM:250951
Lymphoproliferative Syndrome, X-Linked, 1
Neutropenia, Splenomegaly, Lymphocytosis, Pancytopenia, Thrombocytopenia, Aplastic anemia, Hemoph... OMIM:308240
Gray Platelet Syndrome
Impaired thrombin-induced platelet aggregation, Abnormal number of alpha granules, Impaired colla... OMIM:139090
Satoyoshi Syndrome
Hypoplasia of the uterus OMIM:600705
Congenital Disorder Of Glycosylation, Type Iig
Hypospadias, Thrombocytopenia, Cryptorchidism, Anemia OMIM:611209
Babesiosis
Thrombocytopenia, Hemolytic anemia, Leukopenia, Splenomegaly ORPHA:108
Ventricular Septal Defect 3
Pulmonary artery stenosis, Ventricular septal defect, Atrial septal defect, Patent ductus arteriosus OMIM:614432
Imerslund-Gräsbeck Syndrome
Macrocytic anemia, Anisopoikilocytosis, Neutropenia, Oval macrocytosis, Abnormal hemoglobin conce... ORPHA:35858
Primary Myelofibrosis
Leukocytosis, Thrombocytosis, Anemia, Splenomegaly, Hepatosplenomegaly, Poikilocytosis, Extramedu... ORPHA:824
Teebi Hypertelorism Syndrome 1
Bicornuate uterus, Shawl scrotum OMIM:145420
Kennerknecht Syndrome
Agonadism, Hypoplasia of the uterus OMIM:600908
Lymphoproliferative Syndrome 1
Leukopenia, Anemia, Splenomegaly, Autoimmune thrombocytopenia, Decreased proportion of CD4-positi... OMIM:613011
Leishmaniasis
Leukopenia, Anemia, Splenomegaly, Abnormal macrophage morphology, Pancytopenia, Thrombocytopenia ORPHA:507
Immunodeficiency, Common Variable, 13
Pancytopenia, B lymphocytopenia, Acute lymphoblastic leukemia OMIM:616873
Wiskott-Aldrich Syndrome, Autosomal Dominant
Absent microvilli on the surface of peripheral blood lymphocytes, Iron deficiency anemia, Decreas... OMIM:600903
Dyskeratosis Congenita, Autosomal Dominant 2
Leukopenia, Urethral stricture, Pancytopenia, Thrombocytopenia, Aplastic anemia OMIM:613989
Noonan Syndrome 12
Thrombocytopenia, Lymphopenia OMIM:618624
Isolated Agammaglobulinemia
Thrombocytopenia, Abnormal lymphocyte morphology, Anemia, Abnormality of neutrophils ORPHA:229717
Congenital Toxoplasmosis
Thrombocytopenia, Anemia ORPHA:858
Systemic Lupus Erythematosus
Thrombocytopenia, Hemolytic anemia, Leukopenia OMIM:152700
Gaucher Disease, Type Ii
Thrombocytopenia, Anemia, Splenomegaly OMIM:230900
Thiamine-Responsive Megaloblastic Anemia Syndrome
Thrombocytopenia, Megaloblastic anemia ORPHA:49827
Omenn Syndrome
B lymphocytopenia, Hypoplasia of the thymus, Anemia, Splenomegaly, Severe B lymphocytopenia, Thro... OMIM:603554
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Precocious puberty in males, Long penis, Ambiguous genitalia, female, Hypoplasia of the vagina, C... OMIM:202010
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, B lymphocytopenia, Neutropenia, Intermittent thrombocytopenia, Splenomegaly OMIM:150550
Ehlers-Danlos Syndrome, Classic-Like
Bicornuate uterus, Ambiguous genitalia, female OMIM:606408
Transaldolase Deficiency
Anemia, Splenomegaly, Clitoral hypertrophy, Hepatosplenomegaly, Pancytopenia, Thrombocytopenia OMIM:606003
Immunodeficiency 13
B lymphocytopenia, Decreased proportion of CD4-positive helper T cells, Lymphopenia, Decreased CD... OMIM:615518
Aicardi-Goutieres Syndrome 5
Thrombocytopenia OMIM:612952
Vitamin B12-Unresponsive Methylmalonic Acidemia
Macrocytic anemia, Anemia, Thrombocytopenia, Leukopenia ORPHA:27
Normosmic Congenital Hypogonadotropic Hypogonadism
Azoospermia, Hypogonadotropic hypogonadism, Hypoplasia of the ovary, Micropenis, Male hypogonadis... ORPHA:432
Meacham Syndrome
Bicuspid aortic valve, Death in infancy, Neonatal death, Aplasia of the left hemidiaphragm, Paten... OMIM:608978
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Anemia, Thrombocytopenia, Neutropenia ORPHA:289916
Aicardi-Goutieres Syndrome 7
Thrombocytopenia, Splenomegaly OMIM:615846
Autoinflammation With Infantile Enterocolitis
Anemia, Splenomegaly, Reduced natural killer cell count, Pancytopenia, Thrombocytopenia OMIM:616050
Specific Granule Deficiency 2
Anemia, Thrombocytopenia, Neutropenia, Absent neutrophil specific granules OMIM:617475
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Neutropenia, Leukopenia, Monocytosis, Hypoplasia of the thymus, Anemia, Erythroid hypoplasia, Spl... OMIM:612541
Autoimmune Lymphoproliferative Syndrome, Type Iia
Increased B cell count, Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory ... OMIM:603909
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Anemia, Thrombocytopenia, Neutropenia, Splenomegaly ORPHA:79312
Immune Thrombocytopenia
Thrombocytopenia ORPHA:3002
Sea-Blue Histiocytosis
Thrombocytopenia, Sea-blue histiocytosis, Splenomegaly ORPHA:158029
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Aplasia of the uterus, Septate vagina, Uterus didelphys, Aplasia of the vagina OMIM:146255
Tufted Angioma
Thrombocytopenia, Anemia ORPHA:1063
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Cerebellar cyst, Cerebellar dysplasia, Hypoplasia of the pons, Muscular dystrophy, Hydrocephalus,... OMIM:615181
Wolfram Syndrome 1
Testicular atrophy, Thrombocytopenia, Megaloblastic anemia, Sideroblastic anemia OMIM:222300
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
B lymphocytopenia, T lymphocytopenia OMIM:601457
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
B lymphocytopenia, Impaired lymphocyte transformation with phytohemagglutinin, Pericardial effusi... OMIM:619313
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
B lymphocytopenia, T lymphocytopenia, Lymphopenia ORPHA:277
Immunodeficiency 10
Thrombocytopenia, Autoimmune hemolytic anemia OMIM:612783
Wiskott-Aldrich Syndrome
Absent microvilli on the surface of peripheral blood lymphocytes, Impaired lymphocyte transformat... OMIM:301000
Bilateral Frontoparietal Polymicrogyria
Cerebellar dysplasia, Hypoplasia of the pons, Cerebellar vermis hypoplasia, Abnormal cerebellum m... ORPHA:101070
Mayer-Rokitansky-Küster-Hauser Syndrome
Aplasia of the uterus, Hypoplasia of the vagina ORPHA:3109
Popliteal Pterygium Syndrome
Hypoplastic labia majora, Bifid scrotum, Hypoplasia of the vagina, Cryptorchidism, Hypoplasia of ... OMIM:119500
Rhabdoid Tumor
Thrombocytopenia, Anemia ORPHA:69077
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Bicuspid aortic valve, Ventricular septal defect, Cerebellar dysplasia, Abnormal heart morphology... ORPHA:500159
Ivic Syndrome
Rectovaginal fistula, Leukocytosis, Thrombocytopenia ORPHA:2307
Mirage Syndrome
Hypospadias, Leukopenia, Anemia, Lymphopenia, Hypergonadotropic hypogonadism, Thrombocytopenia, C... OMIM:617053
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations
Labial hypoplasia, Bicornuate uterus, Rectovaginal fistula, Clitoral hypertrophy OMIM:300707
Osteopetrosis, Autosomal Recessive 2
Anemia, Hepatosplenomegaly, Extramedullary hematopoiesis, Pancytopenia, Thrombocytopenia OMIM:259710
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Contracture of the distal interphalangeal joint of the fingers, B lymphocytopenia, Severe B lymph... ORPHA:83617
Immunodeficiency 14B, Autosomal Recessive
Thrombocytosis, Leukocytosis, B lymphocytopenia, Monocytosis, Neutrophilia OMIM:619281
Aggressive Systemic Mastocytosis
Leukocytosis, Neutropenia, Thrombocytopenia, Leukemia, Anemia, Abnormal mast cell morphology, Hep... ORPHA:98850
Gamma-Heavy Chain Disease
Abnormal lymphocyte morphology, Anemia, Splenomegaly, Autoimmune thrombocytopenia, Thrombocytopen... ORPHA:100026
Deafness-Lymphedema-Leukemia Syndrome
Leukocytosis, Acute leukemia, Splenomegaly, Myeloproliferative disorder, Thrombocytopenia, Abnorm... ORPHA:3226
Aregenerative Anemia
Neutropenia, Abnormal proportion of CD8-positive T cells, Erythroid hypoplasia, Decreased proport... ORPHA:101096
Congenital Rubella Syndrome
Thrombocytopenia, Anemia, Splenomegaly ORPHA:290
Immunodeficiency, Common Variable, 1
B lymphocytopenia, Decreased proportion of class-switched memory B cells, Splenomegaly, Neutropen... OMIM:607594
Duplication Of Urethra
Hypospadias, Bifid scrotum, Chordee, Uterus didelphys, Coronal hypospadias, Clitoral hypertrophy,... ORPHA:237
Fanconi Anemia, Complementation Group E
Neutropenia, Leukemia, Anemia, Reticulocytopenia, Hypergonadotropic hypogonadism, Pancytopenia, T... OMIM:600901
Neonatal Lupus Erythematosus
Hemolytic anemia, Neutropenia, Anemia, Splenomegaly, Pancytopenia, Thrombocytopenia, Aplastic anemia ORPHA:398124
Acromesomelic Dysplasia 3
Hypoplasia of the uterus, Hypergonadotropic hypogonadism OMIM:609441
Hand-Foot-Genital Syndrome
Hypospadias, Bicornuate uterus, Abnormality of the urethra, Abnormality of the uterus ORPHA:2438
Neurodevelopmental Disorder With Hearing Loss, Seizures, And Brain Abnormalities
Thrombocytopenia OMIM:616577
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Hypospadias, Polycystic ovaries, Hypoplasia of the vagina, Ambiguous genitalia, male, Micropenis,... ORPHA:90796
Estrogen Resistance Syndrome
Enlarged polycystic ovaries, Hypoplasia of the uterus ORPHA:785
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Neutropenia, Coombs-positive hemolytic anemia, Anemia, Autoimmune thrombocytopenia, Thrombocytope... OMIM:304790
Smith-Kingsmore Syndrome
Thrombocytopenia, Cryptorchidism OMIM:616638
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Thrombocytopenia, Anemia, Microangiopathic hemolytic anemia OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Thrombocytopenia, Anemia, Microangiopathic hemolytic anemia OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Thrombocytopenia, Anemia, Microangiopathic hemolytic anemia OMIM:612925
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Thrombocytopenia, Anemia, Microangiopathic hemolytic anemia OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Thrombocytopenia, Anemia, Microangiopathic hemolytic anemia OMIM:612926
Stormorken Syndrome
Thrombocytopenia, Howell-Jolly bodies, Anemia, Asplenia OMIM:185070
Gillessen-Kaesbach-Nishimura Syndrome
Bicornuate uterus OMIM:263210
Fanconi Anemia, Complementation Group A
Neutropenia, Leukemia, Anemia, Reticulocytopenia, Hypergonadotropic hypogonadism, Pancytopenia, T... OMIM:227650
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1
Aplastic anemia, Congenital thrombocytopenia, Amegakaryocytic thrombocytopenia OMIM:605432
Thrombocytopenia-Absent Radius Syndrome
Thrombocytopenia, Aplasia of the uterus ORPHA:3320
Hand-Foot-Genital Syndrome
Hypospadias, Longitudinal vaginal septum, Bifid scrotum, Chordee, Uterus didelphys, Micropenis OMIM:140000
Von Willebrand Disease, Type 3
Thrombocytopenia, Impaired platelet aggregation OMIM:277480
Fetal Gaucher Disease
Pancytopenia, Abnormality of the spleen, Thrombocytopenia, Splenomegaly ORPHA:85212
Combined Immunodeficiency Due To Partial Rag1 Deficiency
B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Splenomegaly, T lymphocy... ORPHA:231154
Dyskeratosis Congenita, Autosomal Dominant 3
Leukopenia, Pancytopenia, Thrombocytopenia, Cryptorchidism, Aplastic anemia OMIM:613990
Bleeding Disorder, Platelet-Type, 17
Absence of alpha granules, Thrombocytopenia OMIM:187900
Letterer-Siwe Disease
Anemia, Thrombocytopenia, Hepatosplenomegaly, Neutropenia OMIM:246400
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome
Thrombocytopenia, Hepatosplenomegaly ORPHA:210136
Oeis Complex
Bifid uterus, Vesicovaginal fistula, Labial hypoplasia, Rectovaginal fistula, Absent scrotum, Amb... OMIM:258040
Immunodeficiency 91 And Hyperinflammation
Monocytosis, Neutrophilia, Hepatosplenomegaly, Thrombocytopenia, Hemophagocytosis OMIM:619644
Mental Retardation, Autosomal Dominant 48
Dysgenesis of the cerebellar vermis, Cerebellar dysplasia, Dilated fourth ventricle, Cerebellar v... OMIM:617751
Portal Hypertension, Noncirrhotic, 2
Thrombocytopenia, Splenomegaly OMIM:619463
Poretti-Boltshauser Syndrome
Dilated fourth ventricle, Cerebellar vermis hypoplasia, Cerebellar cyst, Cerebellar dysplasia OMIM:615960
Prune Belly Syndrome
Congenital posterior urethral valve, Urogenital sinus anomaly, Abnormality of the uterus, Cryptor... ORPHA:2970
Refractory Anemia With Excess Blasts
Leukocytosis, Abnormal mean corpuscular volume, Acute myeloid leukemia, Thrombocytopenia, Anemia ... ORPHA:86839
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Thrombocytopenia, Leukocytosis ORPHA:83601
Autosomal Dominant Coarctation Of Aorta
Ventricular septal defect, Abnormal aortic arch morphology, Patent ductus arteriosus, Aortic arch... ORPHA:1455
46,Xx Gonadal Dysgenesis
Streak ovary, Aplasia/hypoplasia of the uterus, Gonadal dysgenesis, Premature ovarian insufficiency ORPHA:243
Thrombocytopenia 6
Thrombocytopenia OMIM:616937
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome
Cerebellar cyst, Cerebellar dysplasia, Dilated fourth ventricle, Inferior vermis hypoplasia, Elon... ORPHA:370022
Fanconi Anemia, Complementation Group B
Hypogonadism, Micropenis, Hypergonadotropic hypogonadism, Thrombocytopenia, Aplastic anemia OMIM:300514
Tularemia
Leukocytosis, Anemia, Thrombocytopenia ORPHA:3392
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Decreased proportion of memory B cells, B lymphocytopenia ORPHA:70593
Agammaglobulinemia 1, Autosomal Recessive
B lymphocytopenia, Neutropenia OMIM:601495
Matthew-Wood Syndrome
Abnormality of the uterus, Cryptorchidism, Abnormal spleen morphology ORPHA:2470
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Hypospadias, Aplasia of the uterus, Precocious puberty in females, Bifid scrotum, Ambiguous genit... ORPHA:90793
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Abnormal B cell count, Decreased proportion of CD3-positive T cells, Hepatosplenomegaly, Abnormal... ORPHA:331206
Hereditary Folate Malabsorption
Pancytopenia, Thrombocytopenia, Eosinophilia, Megaloblastic anemia ORPHA:90045
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
B lymphocytopenia, Neutropenia, Leukopenia, Abnormally low T cell receptor excision circle level,... OMIM:618986
Systemic Mastocytosis With Associated Hematologic Neoplasm
Leukocytosis, Chronic lymphatic leukemia, Normocytic anemia, Normochromic anemia, Chronic myelomo... ORPHA:98849
Woodhouse-Sakati Syndrome
Hypogonadotropic hypogonadism, Hypoplasia of the fallopian tube, Micropenis, Premature ovarian in... OMIM:241080
Right Atrial Isomerism
Dextrocardia, Complete atrioventricular canal defect, Ventricular septal defect, Asplenia, Right ... OMIM:208530
Macrophage Activation Syndrome
Neutropenia, Anemia, Splenomegaly, Thrombocytopenia, Hemophagocytosis, Abnormal natural killer ce... ORPHA:158061
Immunodeficiency 70
B lymphocytopenia, Decreased proportion of CD4-positive helper T cells OMIM:618969
Immunodeficiency 57 With Autoinflammation
B lymphocytopenia, Reduced natural killer cell count, T lymphocytopenia, Perianal abscess OMIM:618108
Osteopetrosis, Autosomal Recessive 5
Anemia, Decreased osteoclast count, Splenomegaly, Extramedullary hematopoiesis, Pancytopenia, Thr... OMIM:259720
Immunodeficiency 68
B lymphocytopenia, Abscess, T lymphocytopenia, Abnormal natural killer cell count OMIM:612260
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Vaginal atresia, Aplasia of the uterus, Septate vagina, Uterus didelphys ORPHA:2237
Relapsing Fever
Leukocytosis, Leukopenia, Anemia, Neutrophilia, Thrombocytopenia ORPHA:91547
Fanconi Anemia, Complementation Group C
Neutropenia, Leukemia, Anemia, Reticulocytopenia, Hypergonadotropic hypogonadism, Pancytopenia, T... OMIM:227645
Griscelli Syndrome
Thrombocytopenia, Abnormality of neutrophils, Leukopenia, Splenomegaly ORPHA:381
Myopathy With Extrapyramidal Signs
Leukocytosis, Ventricular septal defect, Cerebellar dysplasia, Splenomegaly, Calf muscle hypertrophy OMIM:615673
Combined Immunodeficiency Due To Dock8 Deficiency
B lymphocytopenia, T lymphocytopenia ORPHA:217390
Gaucher Disease, Type I
Anemia, Splenomegaly, Hypersplenism, Pancytopenia, Thrombocytopenia